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News and Features Genome Center Reports Breakthrough in Rapid Diagnosis of Genetic Disorders

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News and Features Genome Center Reports Breakthrough in Rapid Diagnosis of Genetic Disorders

A team of Children's Mercy Hospitals and Clinics investigators led by Stephen Kingsmore, MB, ChB, BAO, DSc, FRcPath, Director of the Center for Pediatric Genomic Medicine, has pioneered the use of groundbreaking next generation genome sequencing to rapidly diagnose critically ill infants.

As reported in the October issue of Science Translational Medicine, the team describes STAT-Seq®, a whole genome sequencing test - from blood sample to returning results to a physician - that delivers results in about 50 hours. Until now, testing even a single gene took six weeks or more. Reducing test speed may reduce infant morbidity and mortality.

Speed of diagnosis is most critical in acute care situations, as in a neonatal intensive care unit (NICU), where medical decision-making is made in hours not weeks. Using STAT-Seq, with consent from parents, the investigators diagnosed acutely ill infants from the hospital's NICU. By casting a broad net over the entire set of about 3,500 genetic diseases, STAT-Seq demonstrates for the first time the potential for genome sequencing to influence therapeutic decisions in the immediate needs of NICU patients.

"Up to one third of babies admitted to a NICU in the United States have genetic diseases and more than 20 percent of infant deaths are caused by congenital malformations, deformations and chromosomal abnormalities caused by genetic illnesses," says Dr. Kingsmore. "By obtaining an interpreted genome in about two days, physicians can make practical use of diagnostic results to tailor treatments to individual infants and children."

Genetic diseases affect about three percent of children and account for 15 percent of childhood hospitalizations. Treatments are currently available for more than 500 genetic diseases. In about 70 of these, such as infantile Pompe disease and Krabbe disease, initiation of therapy in newborns can help prevent disabilities and life-threatening illnesses.

New Technology Developed at Children's Mercy STAT-Seq uses Children's Mercy-developed software that translates physician-entered clinical features in individual patients into a comprehensive set of relevant diseases. This software, SSAGA (Symptom and Software-assisted Genome Analysis), substantially automates identification of the DNA variations that can explain the child's condition and may provide diagnosis. SSAGA software and the use of and Illumina's HiSeq 2500® system, which sequences an entire genome at high coverage in about 25 hours, allows results in about 50 hours. Children's Mercy is the first hospital with access to the HiSeq2500 prototype, and will be the first hospital to acquire the sequencer in late 2012.

Center for Pediatric Genomic Medicine

Formally launched in 2011, the Center for Pediatric Genomic Medicine is dedicated to diagnosing and treating pediatric genetic diseases.

The Center for Pediatric Genomic Medicine is the first of its kind located within a children's hospital. The importance of being located in a children's hospital is twofold:

  • Volume - The center has access to thousands of patients every year, instead of dozens, as is the case in other genome centers, solely focused on the research.
  • Integration - The center is integrated into the clinical operations of the hospital, facilitating an interdisciplinary approach with all subspecialties for both diagnosis and treatment.

The center is particularly unique also because of the translational role it plays in applying its findings directly in the clinical setting.

"For us, this isn't research, but a new approach to medicine here at Children's Mercy," says Dr. Kingsmore. "The results of our work immediately impact diagnosis and treatment of a patient, not a sample."

To inquire about referring a patient or sending a sample, please visit www.childrensmercy.org/pediatricgenomicmedicine or call Rawni Anderson at (816) 234-3686.

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